A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6553846



Internal ID20926958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44306061..44353372hg38UCSC Ensembl
chr21:45725944..45773255hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3847312
hg1947312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18073283
Samples
Known GenesC21orf2, PFKL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6553846
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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